Linked Data
ClinVar Variation Id:
464797
dbSNP Id:
rs3032358
gnomAD v2:
X-66765158-T-TGCAGCAGCA
gnomAD v3:
X-67545316-T-TGCAGCAGCA
gnomAD v4:
X-67545316-T-TGCAGCAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545377_67545385dup , CM000685.2:g.67545377_67545385dup | GRCh38 |
| NC_000023.10:g.66765219_66765227dup , CM000685.1:g.66765219_66765227dup | GRCh37 |
| NC_000023.9:g.66681944_66681952dup | NCBI36 |
| NG_009014.2:g.6346_6354dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.231_239dup | ENSP00000379358.4:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000374690.9:c.231_239dup MANE Select | ENSP00000363822.3:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000396044.8:c.231_239dup | ENSP00000379359.3:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000612452.5:c.231_239dup | ENSP00000484033.2:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000374690.7:c.231_239dup | ENSP00000363822.3:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000396044.7:c.231_239dup | ENSP00000379359.3:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000504326.5:c.231_239dup | ENSP00000421155.1:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000513847.5:n.558_566dup | ||
| ENST00000514029.5:c.231_239dup | ENSP00000425199.1:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000612010.4:c.231_239dup | ENSP00000482407.1:p.Gln80_Glu81insGlnGlnG... | |
| ENST00000612452.4:c.-340_-332dup | ENSP00000484033.1:n.-340_-332dup | |
| ENST00000613054.2:c.231_239dup | ENSP00000479013.1:p.Gln80_Glu81insGlnGlnG... | |
| NM_000044.3:c.231_239dup | NP_000035.2:p.Gln80_Glu81insGlnGlnGln | |
| NM_000044.4:c.231_239dup | NP_000035.2:p.Gln80_Glu81insGlnGlnGln | |
| NM_001011645.3:c.-1553_-1545dup | NP_001011645.1:n.-1553_-1545dup | |
| NM_001348061.1:c.231_239dup | NP_001334990.1:p.Gln80_Glu81insGlnGlnGln | |
| NM_001348063.1:c.231_239dup | NP_001334992.1:p.Gln80_Glu81insGlnGlnGln | |
| NM_001348064.1:c.231_239dup | NP_001334993.1:p.Gln80_Glu81insGlnGlnGln | |
| NM_000044.6:c.231_239dup MANE Select | NP_000035.2:p.Gln80_Glu81insGlnGlnGln |